fibromuscular dysplasia support, education & advocacy
Fibromuscular dysplasia (FMD) is a complex disease that is most commonly seen in women, with systemic presentation that may include stenosis, aneurysm or dissection most commonly in the renal and carotid arteries, migraine-like headaches, dizziness, and tinnitus or a swooshing sound in the ears. Low bone density, joint laxity and degenerative disease in the spine also have been linked to the disease. FMD is considered a rare disease; however, it is also believed to be underdiagnosed.

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It's Rare Disease Week in Washington!

The world marks Rare Disease Day on Feb. 29, 2016 and fibromuscular dysplasia patients will be in Washington, D.C. to increase awareness of the disease and policies impacting the rare community. Rare Disease Week on Capitol Hill brings rare disease community members from across the country together to be educated on federal legislative issues, meet other advocates, and share their unique stories with legislators. You can join in as a supporter!

On Monday, advocates and members of the general public are invited to join the National Center for Advancing Translational Sciences and the National Institutes of Health (NIH) Clinical Center, for presentations, posters and exhibits, an art show, and tours. The event is free, and a live webcast will be available for those who can not attend in person.

Tuesday brings Rare Disease Legislative Advocate's conference. Advocates from across the United States join together to review critical legislation and practice effectively communicating with Congressional representatives and their aides. Sarah E. Kucharski, FMD Chat founder and CEO, will play an advocate actress in an on-stage simulation to train fellow advocates how to — and not to — engage with Congressional representatives. In addition, she will serve as a team leader this year, helping guide advocates new to the lobbying process.

“It is an incredibly meaningful experience to work with rare disease advocates who are inspired to tackle complex issues,” Kucharski said. “These issues are about more than disease-specific awareness or cures — they’re about improving healthcare as a whole.”

On Wednesday, advocates will set out upon The Hill for meetings. Due to time constraints and scheduling demands, meetings tend to be brief, and advocates do not learn of their meeting schedule until the day before or even morning of the lobbying day. Advocates represent their geographic locations and are strategically paired to assist one another. Those who are unable to attend in person, are encouraged to learn more about RDLA's state level advocacy programs.

The Rare Disease Caucus Briefing and Rare Artist Reception conclude Rare Disease Week’s legislative activities on The Hill on Thursday.

Follow FMD Chat on Facebook and Twitter for updates from D.C.

Connections Between Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

Recent studies have linked two rare conditions, fibromuscular dysplasia and spontaneous coronary artery dissection.

FMD and SCAD are most commonly seen in women. FMD's presentation may include dissection or aneurysm most commonly in the renal and carotid arteries, migraine-like headaches, dizziness, and tinnitus. SCAD occurs when the inner layer of an artery tears, creating a blood clot or blockage that results in acute coronary syndrome, heart attack or sudden death. 

According to research presented at the First International FMD Research Network Symposium held at Cleveland Clinic this May, more than 40 to 50 percent of SCAD patients may also have FMD, though the prevalence is uncertain at this time, said Dr. Sharonne Hayes, who directs and practices at the Women's Heart Clinic at Mayo Clinic in Rochester, Minnesota. Research shows that SCAD patients also diagnosed with FMD are at an increased risk for dissections in many arterial beds. 

SCAD may occur with little warning. Some patients report high levels of emotional stress or physical exertion prior to experiencing a dissection, Hayes said, but for many others the cause is unclear. Research indicates FMD may be a causative factor, yet a relationship between the severity of FMD and an occurrence of SCAD has not been determined. Patients may present with minimal evidence of FMD found through only through imaging, or patients may present with bruits, a sound heard within an artery as blood rushes by an obstruction, or symptomatic extracoronary aneurysms or dissections. Recommendations are for symptomatic patients or those with a family history suggestive of significant vascular events to undergo CT angiography from neck to pelvis with additional intracranial imaging if necessary. 

Dr. Jacqueline Saw of Vancouver General Hospital reported the first case study of SCAD and concomitant coronary FMD in Circulation earlier this year. "Although not all SCAD patients have CFMD, it is important to exclude FMD, as involvement of other vascular territories have long-term consequences," the article states.

SCAD research is shaping FMD experts' knowledge of the disease and patient evaluation.

In 2002, the U.S. Preventive Services Task Force began recommending that patients at high risk of developing cardiovascular disease — acute coronary syndrome or thrombotic cerebral vascular disease — take low-dose aspirin as a primary preventative. This year the Federal Drug Administration has come out against the therapy for the prevention of heart attack or stroke; however, aspirin still is recommended for as a preventative for patients who have experienced a prior event.

The treatment presents a complex risk-benefit analysis. There is evidence to support the recommendation of up to 81 mg of aspirin daily for patients diagnosed with cerebrovascular FMD, regardless of symptoms, reported Dr. Jeffrey Olin, Director of Vascular Medicine and the Vascular Diagnostic Laboratory in the Zena and Michael A. Wiener Cardiovascular Institute and Marie-Josée and Henry R. Kravis Center for Cardiovascular Health of The Mount Sinai Medical Center, during the International FMD Research Network Symposium. Aspirin's use in renal FMD patients is less clear, Olin said. 

"There is no evidence that aspirin prevents SCAD, and it should not be used for primary prevention in women, whose bleeding risk from aspirin is higher than men, and in the case of an undiagnosed cerebral aneurysm in an FMD patient could be catastrophic," Hayes said. 

Given these recent findings, FMD Chat is collaborating with the SCAD Alliance to provide more information about the diseases' overlaps. 

Newly Published Research Sheds Light on Possible Treatments for FMD

FMD Chat is pleased to be able to share excerpts from research just published in the Federation of American Societies for Experimental Biology Journal: Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-B expression and connective tissue features, by Santhi Ganesh, Rachel Morissette, Zhi Xu, Florian Schoenhoff, Benjamin F. Griswold, Jiandong Yang, Lan Tong, Min-Lee Yang, Kristina Hunker, Leslie Sloper, Shinie Kuo, Rafi Raza, Dianna M. Milewicz, and Nazli B. McDonnell.

"Virtually no new information on FMD pertaining to mechanisms of disease has been published in the last 4 decades (5). Currently there is no medical therapy aimed at preventing progression or treating the underlying vascular pathology. Furthermore, there are no biomarkers or defined clinical features to identify who is at risk or who has the disorder... We undertook a deep phenotyping study of 47 individuals with FMD to evaluate relevant genetic, clinical, and anatomic features of this vascular disease...

Recent data have suggested that FMD represents a systemic vasculopathy, with the finding of a clinical manifestation of the disease in multiple arterial beds in at least one-third of patients (20). However, systematic evaluation for clinical and musculoskeletal features has not previously been performed. Our results indicate that FMD is a systemic disease with clinical features that extend beyond arterial pathology to include low bone density, joint laxity, and degenerative disease in the spine. The major clinical manifestations of FMD in our study are related to the vascular pathology and pain often related to early onset arthritis and degenerative joint disease in the spine...

The demographics and clinical histories of our subjects closely align with a U.S. registry of 447 patients with FMD (20) despite differences in study methodologies. We also are aware of 12 subjects enrolled in our cohort who are also enrolled in the same U.S. registry. Similar features included percentage of female sex (91.5 vs. 91.0%), mean age at presentation (44 vs. 47 yr), prevalence of hypertension (66.0 vs. 72.0% at study enrollment), headache (53.2 vs. 60.0%), current or former history of smoking (38.3 vs. 37.2%), and a history of exogenous hormone use (61.7 vs. 69.6%). However, in our study, 21.3% of our subjects had undergone surgical treatment for FMD with histopathologic confirmation, in contrast to 3.3% in the U.S. registry. A higher proportion of our cohort had experienced experienced a cerebrovascular event (48.9%) as compared to the U.S. registry, which noted TIA in 8.7% and stroke in 6.9% of its participants. This may reflect an ascertainment bias for patients who are more severely affected in being motivated to undertake the travel requirements for participation at the NIH. Our cohort did not include any individuals with asymptomatic disease discovered incidentally, whereas the U.S. registry included 5.6% with no symptoms or signs. In our study, surveillance MRA imaging of the entire arterial tree showed that 53.2% of our study subjects had vascular disease (aneurysm, beading, stenosis, or dissection) involving more than or equal to 2 arterial beds. Multiple vascular bed involvement was noted in 26.0–35.3% of patients with FMD in the U.S. registry who had imaging performed on additional arterial territories as clinically necessitated. Several caveats to the interpretation of our study MRA findings include that motion artifact from breathing is generally problematic for abdominal studies, previously treated arterial beds in cases of prior surgery or stent implantation could not be assessed, and we were unable to study every subject in the cohort because of contraindications to MR and/or gadolinium contrast administration. These caveats may have led to underestimating the severity and burden of systemic disease. Brain MR imaging is less susceptible to motion artifact, and we found that 12.8% of subjects had an intracerebral aneurysm. In the U.S. registry, 9 of 76 (11.8%) individuals with imaging data had a cerebral artery aneurysm, and 16 of 76 (21.1%) had carotid artery aneurysm, including both extracranial and intracranial internal carotid artery. Overall, the close alignment of demographic variables in our study as compared to the U.S. registry indicates that our cohort is a representative sample of U.S. patients with FMD, but likely with more severe clinical disease...

These findings have potential clinical implications. Our data suggest that an evaluation of degenerative spine arthritis and bone density may be helpful in identifying the cause and possible therapies for musculoskeletal symptoms. The yield of genetic testing for currently known connective tissue dysplasias in the FMD population is low in the absence of features that would otherwise indicate specific genetic testing, consistent with another published study (21). Given the rapid evolution of our understanding of vascular genetic diseases, formal genetic evaluation of patients with connective tissue features may be helpful to rule out other potentially overlapping disorders where FMD can be seen, such as vascular or type IV EDS. Finally, anecdotal evidence supports the rationale for therapy for FMD with pharmacologic agents that are known to decrease vascular TGF-B expression; (48) however, it is premature to make this treatment recommendation without a clinical trial. Further studies to identify the underlying molecular defect in FMD will be needed to clarify these issues."

The full text of this article is available for purchase from The FASEB Journal.